Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.Q129_A130Splc
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CDH1

NM_004360.5:p.Q129_A130Splc

Associated Papers

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST8-CDH1

Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrum.

Postel MD et al.

Human Mutation, 2022

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

Karam R et al.

Jama Network Open, 2019

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.

Lee K et al.

Human Mutation, 2018

Unexpected CDH1 Mutations Identified on Multigene Panels Pose Clinical Management Challenges.

Lowstuter K et al.

Jco Precision Oncology, 2017

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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